Hostname: page-component-cd9895bd7-gbm5v Total loading time: 0 Render date: 2024-12-28T14:53:29.609Z Has data issue: false hasContentIssue false
  • English
  • Français

Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition

Published online by Cambridge University Press:  09 August 2013

Huda Elshershari  and
Catharine Harris
Huda Elshershari*
Affiliation:
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America
Catharine Harris
Affiliation:
Department of Child Health, University of Missouri Health System, Columbia, Missouri, United States of America
*
Correspondence to: H. Elshershari, MD, Pediatric Cardiologist, 7520 Claridge Dr. Unit G, Bridgeview, IL 60455, United States of America. Tel: +1 708 598 4716; E-mail: Elshershari@hotmail.com
Get access Rights & Permissions [Opens in a new window]

Abstract

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

Keywords

Marfanneonateechocardiogram
Type
Brief Reports
Information
Cardiology in the Young , Volume 24 , Issue 4 , August 2014 , pp. 735 - 738
Copyright
Copyright © Cambridge University Press 2013 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Gott, VL. Antoine Marfan and his syndrome: one hundred years later. MD Med J 1998; 47: 247–252.Google ScholarPubMed
2. Pyeritz, RE. Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Connor JM, Pyeritz RE (eds). Principles and Practice of Medical Genetics, 3rd edn. Churchill Livingstone Inc, New York, NY, 1997: 1027–1066.Google Scholar
3. Tekin, M, Cengiz, FB, Ayberkin, E, et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A 2007; 143A: 875–880.CrossRefGoogle ScholarPubMed
4. Habashi, JP, Judge, DP, Holm, TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117–121.CrossRefGoogle Scholar
5. Lavoie, P, Robitaille, G, Agharazii, M, Ledbetter, S, Lebel, M, Lariviere, R. Neutralization of transforming growth factor- beta attenuates hypertension and prevents renal injury in uremic rats. J Hypertens 2005; 23: 1895–1903.CrossRefGoogle ScholarPubMed
6. Gelb, BD. Marfan's syndrome and related disorders – more tightly connected than we thought. N Engl J Med 2006; 355: 841–844.CrossRefGoogle ScholarPubMed
7. Brooke, BS, Habashi, JP, Judge, DP, Patel, N, Loeys, B, Dietz, HC III. Angiotensin II blockade and Aortic – root dilatation in Marfans's syndrome. N Engl J Med 2008; 358: 2787–2795.CrossRefGoogle ScholarPubMed